SLC1A3

Chr 5AD

solute carrier family 1 member 3

Also known as: EA6, EAAT1, GLAST, GLAST1

NCBI Gene: 6507 ENSG00000079215 UniProt: P43003 OMIM: 600111

This gene encodes EAAT1, a high-affinity glutamate transporter that removes glutamate from synapses to terminate excitatory neurotransmission in the central nervous system. Mutations cause episodic ataxia type 6, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.99), indicating that such variants are likely pathogenic.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Episodic ataxia, type 6MIM #612656

UniProtEpisodic ataxia 6

Clinical highlights

Gene-disease validity (ClinGen)

episodic ataxia type 6 · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.28

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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GeneReview available — SLC1A3